Variant report

Variant	rs72721041
Chromosome Location	chr1:94041227-94041228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94040024..94041529-chr1:94048629..94050772,2	MCF-7	breast:
2	chr1:94040725..94043300-chr1:94045336..94048805,3	K562	blood:
3	chr1:94034627..94036946-chr1:94040271..94043197,2	K562	blood:
4	chr1:94040561..94042270-chr1:94043960..94045588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11576435	1.00[ASN][1000 genomes]
rs11577352	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579004	1.00[ASN][1000 genomes]
rs11579685	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580965	1.00[ASN][1000 genomes]
rs11588860	1.00[ASN][1000 genomes]
rs12066343	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12732557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739747	1.00[ASN][1000 genomes]
rs12740779	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744941	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757325	1.00[ASN][1000 genomes]
rs12760092	1.00[ASN][1000 genomes]
rs17110063	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110225	1.00[ASN][1000 genomes]
rs17110370	1.00[ASN][1000 genomes]
rs1877603	1.00[ASN][1000 genomes]
rs1877604	1.00[ASN][1000 genomes]
rs1891138	1.00[ASN][1000 genomes]
rs2818163	1.00[ASN][1000 genomes]
rs34183660	1.00[ASN][1000 genomes]
rs34423897	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34663884	1.00[ASN][1000 genomes]
rs34666525	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34726063	1.00[ASN][1000 genomes]
rs35126293	1.00[ASN][1000 genomes]
rs35691338	1.00[ASN][1000 genomes]
rs35896714	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972761	1.00[ASN][1000 genomes]
rs36115605	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950119	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59996315	1.00[ASN][1000 genomes]
rs61780979	1.00[ASN][1000 genomes]
rs61780999	1.00[ASN][1000 genomes]
rs6660968	1.00[ASN][1000 genomes]
rs6666778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677770	1.00[ASN][1000 genomes]
rs6679609	1.00[ASN][1000 genomes]
rs6683296	1.00[ASN][1000 genomes]
rs66966060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67300695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67511232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652539	1.00[ASN][1000 genomes]
rs7511890	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514579	0.82[EUR][1000 genomes]
rs7525880	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531106	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543098	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543734	0.97[EUR][1000 genomes]
rs7543763	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553185	1.00[ASN][1000 genomes]
rs7555302	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
3	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
4	chr1:94024000-94044200	Strong transcription	HSMM	muscle
5	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:94025200-94043000	Strong transcription	Liver	Liver
7	chr1:94025200-94043000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
9	chr1:94025600-94043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
11	chr1:94028000-94042600	Weak transcription	Fetal Kidney	kidney
12	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
14	chr1:94031400-94042000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:94031400-94042200	Strong transcription	Ovary	ovary
16	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:94032200-94045200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:94033400-94041400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:94033400-94041400	Strong transcription	NH-A	brain
22	chr1:94033400-94041600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:94033400-94043200	Strong transcription	Aorta	Aorta
24	chr1:94033400-94044800	Weak transcription	Right Atrium	heart
25	chr1:94033400-94045000	Strong transcription	NHLF	lung
26	chr1:94033400-94045000	Strong transcription	Osteobl	bone
27	chr1:94033600-94044000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr1:94034000-94043800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr1:94034200-94042800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:94034400-94041400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:94034800-94041400	Strong transcription	Fetal Intestine Large	intestine
32	chr1:94034800-94043000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr1:94035000-94044200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:94035200-94041400	Strong transcription	NHEK	skin
35	chr1:94035200-94042000	Strong transcription	HSMMtube	muscle
36	chr1:94035200-94044600	Strong transcription	Lung	lung
37	chr1:94035200-94045200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:94036000-94043000	Strong transcription	A549	lung
39	chr1:94036200-94041600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:94036200-94044800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:94036400-94048600	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:94036800-94042000	Strong transcription	Primary B cells from cord blood	blood
43	chr1:94038000-94044000	Weak transcription	Esophagus	oesophagus
44	chr1:94038200-94041400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:94038400-94043600	Strong transcription	HUVEC	blood vessel
46	chr1:94038400-94047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
48	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
49	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell

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